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Aliases & Descriptions for FANCC
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| FA3 1, 2 | | FAC 1, 2, 3 | | FACC 2, 3, 5 | | FLJ14675 2 | | OTTHUMP00000021706 2 | | OTTHUMP00000021707 2 |
| | | Descriptions |
|---|
| Fanconi anemia, complementation group C 2 | | Protein FACC 3 | bA80I15.1 (Fanconi anemia, complementation group C, protein) 2 |
|
| | Search outside databases for aliases for FANCC genePrevious GC identifers: GC09M088680 GC09M089589 GC09M091160 GC09M093202 GC09M094940 |
Summaries for FANCC(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for FANCC: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq] UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stabilityGene Wiki entry for FANCC (Fanconi_anemia%2C_complementation_group_C) |
Genomic Location for FANCC
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the FANCC gene 
Entrez Gene cytogenetic band: 9q22.3 Ensembl cytogenetic band: 9q22.32 HGNC cytogenetic band: 9q22.3FANCC Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M096901:
(about GC identifiers)
Start:
|
96,901,157 bp from pter |
End:
|
97,119,812 bp from pter |
Size:
|
218,656 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000009.10 NT_008470.18
| Proteins for FANCC
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597 (See
protein sequence)Recommended Name: Fanconi anemia group C protein Size: 558 amino acids; 63429 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. Interacts with ZBTB32
Subcellular location: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmicPost-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000127.2
ENSEMBL proteins: ENSP00000289081 ENSP00000364454 ENSP00000378754
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for FANCC: Assays for FANCC: | Protein
Domains/ Families for FANCC(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q00597
ProtoNet protein and cluster: Q00597 1 Blocks protein family: IPB000686 Fanconi anaemia group C protein signature
| Gene Function for FANCC
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000136
Applied Biosystems Silencer® siRNAs for FANCC
Sigma-Aldrich siRNA for FANCC  Sigma-Aldrich shRNA Panels and shRNA for FANCC  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000136                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000136                                  untagged cDNA clone in CMV expression vector: NM_000136 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000136
UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597Function: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stabilityGenatlas biochemistry entry for FANCC:gene controlling the correct functioning of the replicative,repair and recombination machineries,involved in the fidelity of end-joining of specific double strand break in the cytoplasmic defense against a specific class of genotoxic agents and in the repair of oxidatively damaged DNA4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Fancc):
1 Gene Ontology (GO) molecular function term (links to tree view): About this table | Pathways & Interactions for FANCC
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for FANCC (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for FANCC 
5/32 Interacting proteins for FANCC (Q005972 ENSP000003644543) via UniProtKB, MINT, and/or STRING (see all 32
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for FANCC(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for FANCC 2 Novoseek chemical compound relationships for FANCC gene
About this table
|
Transcripts for FANCC(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000136
Sigma-Aldrich siRNA for FANCC  Sigma-Aldrich shRNA Panels and shRNA for FANCC  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000136 REFSEQ mRNAs for FANCC gene: NM_000136.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000136               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000136                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000136                                  untagged cDNA clone in CMV expression vector: NM_000136  Additional cDNA sequence: AK222871.1 AK304887.1 AK310599.1 AK312548.1 BC015748.1 CR593180.1 X66893.1 X66894.1 13 DOTS entries: DT.313375 DT.95162350 DT.100706227 DT.100813029 DT.97769226 DT.40126275 DT.100813030 DT.121205235 DT.121205493 DT.121205515 DT.75169691 DT.91703847 DT.97798713 12 AceView cDNA sequences:BX115735 BX509096 BC041030 BC006303 CA842814 CA848758 H94332 BF311482 BF207305 AF039185 AI591051 H94420
highest scoring ESTs for FANCC:X66893 BG822505 AL702060 AU132608 BC015748 BM467064 BX403004 AA759063 AI218842 AI219504 Unigene Cluster for FANCC: Fanconi anemia, complementation group C Hs.494529 [show with all ESTs]Unigene Representative Sequence: NM_000136
GeneLoc Exon Structure
3 Ensembl transcripts including schematic representations: ENST00000289081
ENST00000375305
ENST00000395345
|
Expression for FANCC
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| FANCC expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for FANCC
1 / 2 / 3 9 probe-sets matching FANCC gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CTGGTAAAAC
SOURCE GeneReport for Unigene cluster: Hs.494529
Expression variation in blood from EXPOLDB for FANCC UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597Tissue specificity: Ubiquitous |
Orthologs for FANCC
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for FANCC gene from 5/7 species (see all 7
)
About this table Species with no ortholog for FANCC
ENSEMBL Gene Tree for FANCC | Paralogs for FANCC(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for FANCC(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for FANCC (up to first 250kb)
|
Disorders & Mutations for FANCC
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 227645 UniProtKB/Swiss-Prot: FANCC_HUMAN, Q00597
Defects in FANCC are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair10/16 Novoseek disease relationships for FANCC gene (see all 16
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| fanconis anemia |
97.51 |
50 |
8621788 (3), 12239156 (3), 8058745 (3), 11433346 (2) (see all 30) |
| congenital malformation |
52.42 |
1 |
8789444 (1) |
| cancer |
45.12 |
4 |
15277238 (1), 8621788 (1), 12351379 (1), 17909071 (1) |
| anemia |
43.27 |
9 |
7853372 (2), 12670332 (2), 7829076 (1), 16170343 (1) (see all 7) |
| aplasia |
38.21 |
3 |
10515453 (1), 12351814 (1) |
| hnscc |
31.09 |
2 |
17409780 (1), 16466850 (1) |
| pancreatic cancer |
31.04 |
11 |
14726700 (5), 15277238 (1), 15107617 (1), 12750283 (1) (see all 5) |
| ataxia telangiectasia |
27.69 |
1 |
17277230 (1) |
| chromosomal aberrations |
24.49 |
1 |
8978774 (1) |
| breast cancer |
21.52 |
4 |
17909071 (1), 14695169 (1), 18990233 (1) |
About this table
Genatlas disease: FANCC Fanconi anemia,autosomal recessive,complementation group C,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities,radial hypoplasia and vertebral defect and an increased cancer risk with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents GeneTests: FANCC Fanconi Anemia Human Gene Mutation Database: FANCC Genetic Association Database: FANCC Human Genome Epidemiology Navigator: FANCC (7 documents)
|
Medical News for FANCC(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for FANCC (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/162 PubMed articles for FANCC gene (see all 162
):- A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. (PubMed id 10572087)1, 3, 4 Hoatlin M.E.... Licht J.D. (1999)
- Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. (PubMed id 8058745)1, 3, 4 Youssoufian H. (1994)
- A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M. (PubMed id 16116422)3, 4 Meetei A.R....Wang W. (2005)
- Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. (PubMed id 15726604)3, 6 Koren-Michowitz M....Amariglio N. (2005)
- Germ line Fanconi anemia complementation group C mutations and pancreatic cancer. (PubMed id 15695377)3, 6 Couch F.J....Petersen G. (2005)
- X-linked inheritance of Fanconi anemia complementation group B. (PubMed id 15502827)3, 4 Meetei A.R....Joenje H. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. (PubMed id 12724401)3, 4 Meetei A.R.... Wang W. (2003)
- Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. (PubMed id 11876000)3, 6 Peleg L....Barkai G. (2002)
- Novel mutations and polymorphisms in the Fanconi anemia group C gene. (PubMed id 8844212)3, 4 Gibson R.A.... Mathew C.G. (1996)
|
Search for FANCC
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing FANCC
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing FANCC
(According to HUGE)
About This Section
| -- |
Specialized Databases showing FANCC(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| ATLAS Chromosomes in Cancer entry for FANCC | Genetics and Cytogenetics in Oncology and Haematology | | Fanconi Anemia Mutation Database | http://www.rockefeller.edu/fanconi/mutate/jumpc.html | | GeneReviews | http://www.genetests.org/query?gene=FANCC | | NIEHS-SNPs | http://egp.gs.washington.edu/data/fancc/ |
|
| | | About This Section
| --
| Services for FANCC(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for FANCC:

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Incremental update: 13 Oct 2009
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